title: Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis.
abstract: OBJECTIVE
  To study the clinico-etiological profile of children with intellectual disability using an algorithmic approach.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  Tertiary care centre in Northern India.
  
  
  METHODS
  Consecutive children aged 3 months to 12 years, presenting with intellectual disability, confirmed by Developmental Assessment Scale for Indian Infants, Binet Kulshreshtha Test and Vineland Social Maturity Scale.
  
  
  METHODS
  All children were assessed on an internally validated structured proforma. A targeted approach included thyroid function tests, Brainstem evoked response audiometry, electroencephalogram, neuroimaging and metabolic screen done as a pre-decided schema. Genetic tests included karyotyping, molecular studies for Fragile X, Multiplex Ligation Dependent Probe Amplification and Array Comparative Genomic Hybridisation.
  
  
  RESULTS
  Data of 101 children (median age 22 months) was analyzed. The etiological yield was 82.1% with genetic causes being the most common (61.4%) followed by perinatal acquired (20.4%), CNS malformations (12%), external prenatal (3.6%), and postnatal acquired (2.4%). Mild delay was seen in 11.7%, moderate in 21.7%, severe in 30.6% and profound in 35.6%
  
  
  CONCLUSIONS
  It is possible to ascertain the diagnosis in most of the cases of intellectual disability using a judicious and sequential battery of tests.
authors.affiliation: Departments of Pediatrics and *Radio diagnosis, Maulana Azad Medical College, and #Department of Pediatrics, All India Institute of Medical Sciences; New Delhi, India. Correspondence to: Dr Seema Kapoor, Professor, Department of Pediatrics, Maulana Azad Medical College, New Delhi 110 002, India. drseemakapoor@gmail.com.
authors.forename: Silky
authors.initials: S
authors.lastname: Jain
authors.forename: Veena
authors.initials: V
authors.lastname: Chowdhury
authors.forename: Monica
authors.initials: M
authors.lastname: Juneja
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Pandey
authors.forename: Ankur
authors.initials: A
authors.lastname: Singh
authors.forename: Malobika
authors.initials: M
authors.lastname: Bhattacharya
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
mesh_terms: D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D008297:Male